title: Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
authors.affiliation: Department of Cellular Science, Institute of Molecular Medicine, University of Oxford, UK.
authors.forename: J
authors.initials: J
authors.lastname: Loughlin
authors.forename: C
authors.initials: C
authors.lastname: Irven
authors.forename: Z
authors.initials: Z
authors.lastname: Mustafa
authors.forename: M D
authors.initials: MD
authors.lastname: Briggs
authors.forename: A
authors.initials: A
authors.lastname: Carr
authors.forename: S A
authors.initials: SA
authors.lastname: Lynch
authors.forename: R G
authors.initials: RG
authors.lastname: Knowlton
authors.forename: D H
authors.initials: DH
authors.lastname: Cohn
authors.forename: B
authors.initials: B
authors.lastname: Sykes
mesh_terms: D000130:Achondroplasia / Q000235:genetics* / Q000473:pathology; D000595:Amino Acid Sequence; D001483:Base Sequence; D064236:Cartilage Oligomeric Matrix Protein; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D064235:Matrilin Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D017931:DNA Primers; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human; D004247:DNA